{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:10:54Z","timestamp":1791220254578,"version":"4.1.0"},"reference-count":18,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2015,7,1]],"date-time":"2015-07-01T00:00:00Z","timestamp":1435708800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features among those with and without 22q11.2 deletion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Descriptive cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>One hundred patients with palatal abnormalities and suspicion of 22q11.2 DS were included.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>All patients were evaluated by a clinical geneticist, who completed a standardized clinical protocol. The 22q11.2 deletion screening was performed with fluorescence in situ hybridization using the TUPLE1 probe and multiplex ligation-dependent probe amplification using the P250-A1 kit.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The 22q11.2 deletion was detected in 35 patients, in whom the most frequent clinical features were congenital heart disease (15\/30 \u2013 50%), developmental delay (19\/35 \u2013 54%), speech delay (20\/35 \u2013 57%), learning disabilities (27\/35 \u2013 77%), immunologic alterations (18\/29 \u2013 62%). In addition, the most common facial dysmorphisms in this group were long face (27\/35 \u2013 77%), typical nose (24\/35 \u2013 69%), and hooded eyelids (19\/35 \u2013 54%). Comparing features in patients with or without the deletion revealed significant differences (positively correlated with the deletion) for speech delay, learning disabilities, conductive hearing loss, number of dysmorphisms, long face, and hooded eyelids. Cleft lip and palate was negatively correlated with the deletion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The presence of speech delay, learning disabilities, conductive hearing loss, long face, and hooded eyelids should reinforce the suspicion of 22q11.2 DS in patients with palatal abnormalities and would help professionals direct clinical follow-up of these patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/13-233","type":"journal-article","created":{"date-parts":[[2014,5,7]],"date-time":"2014-05-07T18:13:47Z","timestamp":1399486427000},"page":"411-416","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":19,"title":["Clinical Features in Patients with 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities"],"prefix":"10.1177","volume":"52","author":[{"given":"T\u00e1rsis P.","family":"Vieira","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fab\u00edola P.","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Il\u00e1ria C.","family":"Sgardioli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josiane","family":"Souza","sequence":"additional","affiliation":[{"name":"Assistance Center for Cleft Lip and Palate, Curitiba, PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes C.","family":"Fett-Conte","sequence":"additional","affiliation":[{"name":"Molecular Biology Department, Medicine School in S\u00e3o Jos\u00e9 do Rio Preto, S\u00e3o Jos\u00e9 do Rio Preto, SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella L.","family":"Monlle\u00f3","sequence":"additional","affiliation":[{"name":"Medical Genetics Sector, State University of Alagoas, and Clinical Genetics Unit, University Hospital, Federal University of Alagoas, Maceio, AL, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marshall B.","family":"Fontes","sequence":"additional","affiliation":[{"name":"Medical Genetics Sector, State University of Alagoas, Maceio, AL, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00eamis","family":"F\u00e9lix","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela F.","family":"Leal","sequence":"additional","affiliation":[{"name":"Facial Defects Treatment Center, Professor Fernando Figueira Integral Medicine Institute, Recife, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erlane Marques","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera L.","family":"Gil-Da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, SP, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2015,7,1]]},"reference":[{"key":"bibr1-13-233","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10914"},{"key":"bibr2-13-233","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"bibr3-13-233","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450307"},{"key":"bibr4-13-233","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-012-0096-y"},{"key":"bibr5-13-233","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61601-8"},{"key":"bibr6-13-233","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2012.08.010"},{"key":"bibr7-13-233","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"bibr8-13-233","first-page":"118","volume":"16","author":"Mingarelli R.","year":"1996","journal-title":"J Craniofac Genet Dev 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